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FLASH GENE

Symbol

FGD1

contributors: mct - updated : 29-05-2013

HGNC name	FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia)
HGNC id	3663

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FGD1 faciogenital dysplasia
Location	Xp11.21      Physical location : 54.471.888 - 54.522.599
Synonym name	Rho/Rac, CDC42Hs specific (guanine nucleotide exchange factor)
	faciogenital dysplasia (Aarskog-Scott syndrome)
	zinc finger FYVE domain-containing protein 3
	faciogenital dysplasia protein
Synonym symbol(s)	AAS, FGDY, RP1-112K5.1, ZFYVE3, MRXS16

DNA

TYPE	functioning gene
STRUCTURE	50.71 kb     18 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004463 18 - 4291 NP_004454 - 961 - -

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive salivary gland       highly Endocrine pancreas       lowly Nervous nerve cranial nerve     highly Respiratory lung       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Muscular striatum skeletal     skeleton subchondral osteoblast

cells

System Cell Pubmed Species Stage Rna symbol Skeleton osteoblast

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	heart, brain, lung, kidney, placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	guanine nucleotide exchange factor (GEF) with proline rich N terminal region
	a DBL homology domain
	a pleckstrin homology (PH) domain
	a FYVE -finger domain
	cysteine rich zinc finger-like region and two potential SH3 binding sites
	second C terminal PH homology domain

HOMOLOGY

interspecies

homolog to murine Fgd1

Homologene

FAMILY	CDC 42 specific GDP-GTP exchange factor family
	Ras-like RHO/RAC guanine nucleotide exchange factors (GEF) family

CATEGORY

regulatory , signaling

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microfilament
	intracellular,nucleus
text	subcortical actin cytoskeleton

basic FUNCTION	involved in signal transduction and mammalian morphogenesis and in regulation of the osteoblast actin cytoskeleton
	guanine nucleotide exchange factor specifically activating the Rho GTPase 42
	regulator of essential signals required during embryonic development (critical in excretory cell morphogenesis
	stimulating the mitogen activated protein kinase cascade and the RAS-like family of Rho and Rac proteins
	guanine nucleotide exchange factor for the GTPase Cdc42, which plays important roles in cytoskeletal regulation and the organization of actin filaments (Huber 2008)
	role in epidermal growth factor-stimulated JUN NH2-terminal kinase activation and cell migratio
	with FGD3 play different roles to regulate cellular functions but their intracellular levels are tightly controlled by the same destruction pathway through SCF(FWD1/beta-TrCP) (Hayakawa 2008)
	important role for FGD1/CDC42 signaling in hMSC osteogenesis
	involvement of FGD1 in endothelial cell biology
	might be an important regulator of events controlling extracellular matrix remodelling and possibly cell invasion in physiological and pathological settings

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Zn2+

protein	p21 GTPase CDC42 (activation)
	cortactin (regulating the actin cytoskeleton)
	TGFB1-regulated GEF (guanine nucleotide exchange factor) and, as such, the first GEF to be involved in the process of cytokine-induced podosome formation
	activation of MAP3K11 specifically by FGD1/CDC42 is important for skeletal mineralization

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FGD1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS